Variant report

Variant	rs72718212
Chromosome Location	chr14:69450051-69450052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705

Variant related genes	Relation type
ACTN1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10131417	0.90[EUR][1000 genomes]
rs11846999	0.90[EUR][1000 genomes]
rs11847083	0.90[EUR][1000 genomes]
rs11850741	0.88[EUR][1000 genomes]
rs17758097	0.93[EUR][1000 genomes]
rs17835991	0.90[EUR][1000 genomes]
rs2284906	0.90[EUR][1000 genomes]
rs58291960	0.90[EUR][1000 genomes]
rs67356344	0.90[EUR][1000 genomes]
rs7144924	0.86[EUR][1000 genomes]
rs72718210	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718216	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72718217	0.96[EUR][1000 genomes]
rs730635	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69447200-69450400	Enhancers	NHDF-Ad	bronchial
3	chr14:69447200-69453000	Weak transcription	K562	blood
4	chr14:69447400-69450200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:69447400-69454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69447800-69450200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:69447800-69450200	Enhancers	Fetal Lung	lung
8	chr14:69447800-69450400	Enhancers	NHLF	lung
9	chr14:69448000-69450600	Enhancers	HepG2	liver
10	chr14:69448000-69453000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:69448400-69450200	Enhancers	NH-A	brain
12	chr14:69448400-69453000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:69448400-69453400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:69448400-69454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:69448600-69450200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:69448600-69450400	Enhancers	Ovary	ovary
17	chr14:69448800-69454000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:69449000-69454600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69449200-69450400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:69449200-69450600	Enhancers	Liver	Liver
21	chr14:69449200-69454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:69449200-69454400	Weak transcription	NHEK	skin
23	chr14:69449200-69458400	Weak transcription	HUVEC	blood vessel
24	chr14:69449400-69452200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:69449400-69453000	Weak transcription	Aorta	Aorta
26	chr14:69449400-69454000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:69449400-69454400	Weak transcription	HMEC	breast
28	chr14:69449400-69454600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69449600-69450200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:69449600-69450400	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:69449800-69450200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr14:69449800-69450200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:69449800-69450400	Enhancers	Colon Smooth Muscle	Colon
34	chr14:69449800-69450400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:69450000-69450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:69450000-69450400	Enhancers	Osteobl	bone
37	chr14:69450000-69452800	Weak transcription	HSMM	muscle
38	chr14:69450000-69453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:69450000-69454200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:69450000-69454400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:69450000-69454400	Weak transcription	Pancreas	Pancrea
42	chr14:69450000-69454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:69450000-69455400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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